770725000: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702257012	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702258019	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404899011	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404900018	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterised by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702257012	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702258019	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702259010	A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404899011	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404900018	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterised by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3450391001000114	Infantile zerebrale und zerebelläre Atrophie mit postnataler progressiver Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015581000172116	atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015581000172116	atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450391001000114	Infantile zerebrale und zerebelläre Atrophie mit postnataler progressiver Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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Component annotation with string value reference set (foundation metadata concept)

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